VRK1 is a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. VRK1 is widely expressed in human tissues and actively dividing cells, such as those in testis, leukocytes, fetal liver and carcinomas. VRK1 regulate cell proliferation and phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. The spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.
A cDNA library enriched for human fetal-specific liver genes was constructed by suppressive subtractive hybridization. EST fls223 generated from this library was found to represent a novel putative serine/threonine (Ser/Thr) kinase. A full-length clone isolated for this gene encodes a
American journal of human genetics, 85(2), 281-289 (2009-08-04)
The spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of disorders characterized by degeneration and loss of anterior horn cells in the spinal cord, leading to muscle weakness and atrophy. Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH
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